PERSPECTIVE
Frequency of metabolic disorders
Frequency of metabolic disorders: more than one needle in the haystack
Charles Dent Metabolic Unit, The National Hospital for Neurology & Neurosurgery, London, UK
Correspondence to:
Correspondence to:
P Lee
Charles Dent Metabolic Unit, Post Box 92, The National Hospital for Neurology & Neurosurgery, Queen Square, London WC1N 3BG, UK; philip.lee@uclh.nhs.uk
Perspective on the paper by Sanderson et al (see 896)
| The first 150 words of the full text of this article appear below. |
Since Archibald Garrod coined the term "inborn freaks of metabolism" after his classic studies on alkaptonuria, cystinuria and pentosuria a century ago,1 clinicians have believed that these disorders are a rarity. Early progress was hampered by insensitive methods of detection, as well as a lack of awareness within the medical community as a whole. The successive application of chromatographic techniques, mass spectrometry, enzymology and, recently, molecular genetics has increased our ability to detect metabolic perturbations in symptomatic, and in asymptomatic, people. Despite possible diagnosis, nihilism persisted as few therapeutic interventions were available and many of those affected died early in childhood. Even with survival, quality of life was extremely poor.
Phenylketonuria (PKU) is a good example of how the application of new advances, diagnostically and therapeutically, can have a dramatic effect on outcome and therefore on expectations. PKU was first described by Følling in the 1930s.
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